NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) AND Retinitis pigmentosa
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000132574.2
Allele description [Variation Report for NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)]
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024